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DNAJB12 DnaJ heat shock protein family (Hsp40) member B12 [ Homo sapiens (human) ]

Gene ID: 54788, updated on 13-Feb-2019

Summary

Official Symbol
DNAJB12provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member B12provided by HGNC
Primary source
HGNC:HGNC:14891
See related
Ensembl:ENSG00000148719 MIM:608376
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DJ10
Summary
DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues See more
Orthologs

Genomic context

See DNAJB12 in Genome Data Viewer
Location:
10q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (72332830..72355149, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74092588..74114907, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene DNA damage inducible transcript 4 Neighboring gene Sharpr-MPRA regulatory region 14427 Neighboring gene mitochondrial calcium uptake 1 Neighboring gene RNA, U6 small nuclear 805, pseudogene Neighboring gene sorting nexin 19 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586B2023

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Hsp70 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ERAD pathway IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to misfolded protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to misfolded protein IDA
Inferred from Direct Assay
more info
PubMed 
chaperone cofactor-dependent protein refolding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chaperone cofactor-dependent protein refolding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dnaJ homolog subfamily B member 12
Names
DnaJ (Hsp40) homolog, subfamily B, member 12

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001002762.3NP_001002762.3  dnaJ homolog subfamily B member 12 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2 and 4 encode the same protein.
    Source sequence(s)
    AC091769, AL833358, BC011812, BC064920, DC397260
    Consensus CDS
    CCDS7316.2
    Related
    ENSP00000345575.3, ENST00000338820.7
    Conserved Domains (2) summary
    pfam09320
    Location:268368
    DUF1977; Domain of unknown function (DUF1977)
    cl28246
    Location:110236
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  2. NM_001365080.1NP_001352009.1  dnaJ homolog subfamily B member 12 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC091769
    Conserved Domains (2) summary
    pfam09320
    Location:268368
    DUF1977; Domain of unknown function (DUF1977)
    cl28246
    Location:110236
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  3. NM_001365081.1NP_001352010.1  dnaJ homolog subfamily B member 12 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC091769
    Conserved Domains (2) summary
    pfam09320
    Location:268368
    DUF1977; Domain of unknown function (DUF1977)
    cl28246
    Location:110236
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  4. NM_017626.5NP_060096.4  dnaJ homolog subfamily B member 12 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein.
    Source sequence(s)
    AL833358, BC064920, DC397260
    Consensus CDS
    CCDS7316.2
    Related
    ENSP00000378363.2, ENST00000394903.6
    Conserved Domains (2) summary
    pfam09320
    Location:268368
    DUF1977; Domain of unknown function (DUF1977)
    cl28246
    Location:110236
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

RNA

  1. NR_157570.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC091769

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    72332830..72355149 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269931.2XP_005269988.1  dnaJ homolog subfamily B member 12 isoform X1

  2. XM_005269932.4XP_005269989.1  dnaJ homolog subfamily B member 12 isoform X2

    UniProtKB/TrEMBL
    J3KPS0
    Conserved Domains (2) summary
    pfam00226
    Location:144205
    DnaJ; DnaJ domain
    pfam09320
    Location:302402
    DUF1977; Domain of unknown function (DUF1977)

RNA

  1. XR_246094.4 RNA Sequence

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